Results 51 to 60 of about 2,105 (164)

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

Are viral vector-mediated therapies compatible with aberrant glycosylation?

Molecular Therapy: Methods & Clinical Development
The ability of adeno-associated viruses (AAVs) to transduce host cells relies on interactions with glycan moieties on the cellular surface.
I.J.J. Muffels, R. Budhraja, S. Radenkovic, R. Shah, A. Pandey, E. Morava, T. Kozicz   +6 more
doaj   +1 more source

Congenital Disorders of Glycosylation from a Neurological Perspective

Brain Sciences, 2021
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins.
Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald   +3 more
doaj   +1 more source

Malectin Alleviates Endoplasmic Reticulum Stress in Gestational Diabetes Mellitus via Glycoprotein Quality Control Mechanisms

Advanced Science, Volume 13, Issue 46, 17 August 2026.
Malectin alleviates high glucose‐induced ER stress and damage in placental trophoblasts, a function dependent on its six critical carbohydrate‐binding residues. In a GDM mouse model, administration of TAT‐Malectin ameliorated hyperglycemia and placental ER stress and prevented fetal macrosomia.
Jiahui Zhu, Yumeng Zhang, Ye Wang, Xiaoyu Zhu, Ailin Yuan, Weijing Yin, Huangmin Yu, Xuemin Pang, Yufeng He, Yuchen Wang, Tong Wang, Yong Li, Yunlong Si   +12 more
wiley   +1 more source

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia) [PDF]

Archives of Disease in Childhood, 2002
To delineate the pattern of growth in prepubertal children with congenital disorder of glycosylation type Ia (CDG-Ia) in order to identify critical period(s) and possible cause(s) of growth failure.Longitudinal measurements of weight, length/height, and head circumference from birth to 10 years of age in 25 CDG-Ia patients with the R141H/F119L PMM2 ...
S, Kjaergaard, J, Müller, F, Skovby
openaire   +2 more sources

SSR4 Sustains Tertiary Lymphoid Structures by Regulation Quality Control of N‐linked Glycosylation During B‐cell Differentiation Into Plasmacyte in Colorectal Cancer

Advanced Science, Volume 13, Issue 46, 17 August 2026.
SSR4, a TRAP component induced in B cells, governs BAFFR N‐glycosylation via DDOST to sustain NF‐κB signaling, B‐cell differentiation, and TLS maturation. Its loss impairs anti‐tumor immunity, while overexpression improves antibody glycosylation and ADCC, revealing a critical regulator for cancer immunotherapy.
Wei Zhao, Youcai Zhao, Haiyang Li, Bowen Yang, Siyan Lu, Xueting Fu, Caixia Zhang, Yirong Chen, Xiaofeng Bian, Xinghua Ma, Xiaobing Yang, Bin Wang, Yuan Fang, Lulu Yang, Yelin Zhao, Shuli Zhao   +15 more
wiley   +1 more source

Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix

The Turkish Journal of Pediatrics, 2020
Congenital glycosylation disorders (CDG) are a group of rare hereditary metabolic diseases that result from abnormal protein and lipid glycosylation.
Betül Kılıç, Nejmiye Akkuş
doaj   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening [PDF]

Journal of Neurology, 2007
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems.
Vermeer, S., Kremer, H.P.H., Leijten, Q.H., Scheffer, H., Matthijs, G., Wevers, R.A., Knoers, N.V.A.M., Morava, E., Lefeber, D.J.   +8 more
openaire   +3 more sources

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, Volume 45, Issue 4, Page 745-768, July/August 2026.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source